Canonical Allele Identifier: CA315433382

Gene: ADA PKIG

Linked Data

• ClinVar Variation Id: 2138345
• ClinVar RCV Id: RCV003050556
• dbSNP Id: rs912914100
• gnomAD v2: 20-43249043-C-G
• gnomAD v4: 20-44620402-C-G
• MyVariant Identifiers: chr20:g.43249043C>G (hg19) ; chr20:g.44620402C>G (hg38)
• ERepo: CA315433382/MONDO:0007064/114

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620402C>G , CM000682.2:g.44620402C>G	GRCh38
NC_000020.10:g.43249043C>G , CM000682.1:g.43249043C>G	GRCh37
NC_000020.9:g.42682457C>G	NCBI36
NG_007385.1:g.36334G>C , LRG_16:g.36334G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.1143-1G>C (ADA)
ENST00000536076.2:c.823-1G>C (ADA)	ENSP00000512234.1:n.823-1G>C
ENST00000536532.6:c.*119-1G>C (ADA)	ENSP00000440946.1:n.*119-1G>C
ENST00000537820.2:c.904-1G>C (ADA)	ENSP00000441818.1:n.904-1G>C
ENST00000539235.6:c.*360-1G>C (ADA)	ENSP00000446464.1:n.*360-1G>C
ENST00000695889.1:c.451-1G>C (ADA)	ENSP00000512240.1:n.451-1G>C
ENST00000695890.1:n.5086G>C (ADA)
ENST00000695891.1:c.516-1G>C (ADA)	ENSP00000512241.1:n.516-1G>C
ENST00000695927.1:c.1054-1G>C (ADA)	ENSP00000512270.1:n.1054-1G>C
ENST00000695949.1:c.901-1G>C (ADA)	ENSP00000512281.1:n.901-1G>C
ENST00000695956.1:c.131-1G>C (ADA)
ENST00000695957.1:c.*467-1G>C (ADA)	ENSP00000512286.1:n.*467-1G>C
ENST00000695991.1:c.514-1G>C (ADA)	ENSP00000512314.1:n.514-1G>C
ENST00000695992.1:c.*119-1G>C (ADA)	ENSP00000512315.1:n.*119-1G>C
ENST00000695993.1:c.976-1G>C (ADA)	ENSP00000512316.1:n.976-1G>C
ENST00000695994.1:c.*119-1G>C (ADA)	ENSP00000512317.1:n.*119-1G>C
ENST00000695995.1:c.586-1G>C (ADA)	ENSP00000512318.1:n.586-1G>C
ENST00000695996.1:n.1058-1G>C (ADA)
ENST00000696003.1:n.2760-1G>C (ADA)
ENST00000696004.1:n.1759G>C (ADA)
ENST00000696005.1:c.426-1G>C (ADA)
ENST00000696006.1:c.*119-1G>C (ADA)	ENSP00000512325.1:n.*119-1G>C
ENST00000696007.1:c.903-1G>C (ADA)	ENSP00000512326.1:n.903-1G>C
ENST00000696008.1:n.3330-1G>C (ADA)
ENST00000696017.1:c.973-1G>C (ADA)	ENSP00000512333.1:n.973-1G>C
ENST00000696034.1:c.*119-1G>C (ADA)	ENSP00000512343.1:n.*119-1G>C
ENST00000696035.1:n.1162-1G>C (ADA)
ENST00000696036.1:n.1677-1G>C (ADA)
ENST00000696037.1:n.2653-1G>C (ADA)
ENST00000696038.1:c.*733-1G>C (ADA)	ENSP00000512344.1:n.*733-1G>C
ENST00000696039.1:n.1340-1G>C (ADA)
ENST00000696058.1:c.973-1G>C (ADA)	ENSP00000512361.1:n.973-1G>C
ENST00000696059.1:c.*921-1G>C (ADA)	ENSP00000512362.1:n.*921-1G>C
ENST00000696060.1:c.1045-1G>C (ADA)	ENSP00000512363.1:n.1045-1G>C
ENST00000696061.1:c.973-1G>C (ADA)	ENSP00000512364.1:n.973-1G>C
ENST00000696062.1:c.1039-1G>C (ADA)	ENSP00000512365.1:n.1039-1G>C
ENST00000696063.1:c.1051-1G>C (ADA)	ENSP00000512366.1:n.1051-1G>C
ENST00000696064.1:c.823-1G>C (ADA)	ENSP00000512367.1:n.823-1G>C
ENST00000696065.1:c.298-1G>C (ADA)	ENSP00000512368.1:n.298-1G>C
ENST00000696072.1:n.331-1G>C (ADA)
ENST00000696073.1:n.1287-1G>C (ADA)
ENST00000696074.1:n.527-1G>C (ADA)
ENST00000696075.1:c.*946-1G>C (ADA)	ENSP00000512374.1:n.*946-1G>C
ENST00000696076.1:c.1045-1G>C (ADA)	ENSP00000512375.1:n.1045-1G>C
ENST00000696077.1:c.970-1G>C (ADA)	ENSP00000512376.1:n.970-1G>C
ENST00000696078.1:c.973-1G>C (ADA)	ENSP00000512377.1:n.973-1G>C
ENST00000696079.1:c.973-1G>C (ADA)	ENSP00000512378.1:n.973-1G>C
ENST00000696080.1:c.976-1G>C (ADA)	ENSP00000512379.1:n.976-1G>C
ENST00000696081.1:n.1095-1G>C (ADA)
ENST00000696082.1:c.1051-1G>C (ADA)	ENSP00000512380.1:n.1051-1G>C
ENST00000696083.1:n.1933-1G>C (ADA)
ENST00000696084.1:n.1153-1G>C (ADA)
ENST00000696104.1:c.*45-1G>C (ADA)	ENSP00000512399.1:n.*45-1G>C
ENST00000372874.9:c.976-1G>C (ADA) MANE Select	ENSP00000361965.4:n.976-1G>C
ENST00000372874.8:c.976-1G>C (ADA)	ENSP00000361965.4:n.976-1G>C
ENST00000372887.5:c.152-3531C>G (PKIG)	ENSP00000361978.1:n.152-3531C>G
ENST00000464097.5:n.1341G>C (ADA)
ENST00000492931.5:n.1136-1G>C (ADA)
ENST00000536532.5:c.*119-1G>C (ADA)	ENSP00000440946.1:n.*119-1G>C
ENST00000537820.1:c.904-1G>C (ADA)	ENSP00000441818.1:n.904-1G>C
ENST00000539235.5:c.*360-1G>C (ADA)	ENSP00000446464.1:n.*360-1G>C
NM_000022.2:c.976-1G>C , LRG_16t1:c.976-1G>C (ADA)	NP_000013.2:n.976-1G>C
XM_005260236.2:c.904-1G>C (ADA)	XP_005260293.1:n.904-1G>C
XM_011528478.1:c.571-1G>C (ADA)	XP_011526780.1:n.571-1G>C
XM_011528479.1:c.571-1G>C (ADA)	XP_011526781.1:n.571-1G>C
XR_244129.1:n.965-1G>C (ADA)
NM_000022.3:c.976-1G>C (ADA)	NP_000013.2:n.976-1G>C
NM_001322050.1:c.571-1G>C (ADA)	NP_001308979.1:n.571-1G>C
NM_001322051.1:c.904-1G>C (ADA)	NP_001308980.1:n.904-1G>C
NR_136160.1:n.1062-1G>C (ADA)
NM_000022.4:c.976-1G>C (ADA) MANE Select	NP_000013.2:n.976-1G>C
NM_001322050.2:c.571-1G>C (ADA)	NP_001308979.1:n.571-1G>C
NM_001322051.2:c.904-1G>C (ADA)	NP_001308980.1:n.904-1G>C
NR_136160.2:n.1003-1G>C (ADA)